ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CARD16 | - | - |
GRCh38 GRCh37 |
- | - | |
CARD17 | - | - |
GRCh38 GRCh37 |
- | - | |
CARD18 | - | - |
GRCh38 GRCh37 |
- | - | |
CASP1 | - | - |
GRCh38 GRCh37 |
- | - | |
CASP12 | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
CASP4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
CASP5 | - | - |
GRCh38 GRCh37 |
- | - | |
LINC02552 | - | - | - | GRCh38 | - | - |
LOC121392937 | - | - | - | GRCh38 | - | - |
LOC126861322 | - | - | - | GRCh38 | - | - |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (NCBI36 , GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052713.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023